CDK5RAP2
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CDK5RAP2 (HGNC:18672) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CDK5 regulatory subunit associated protein 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MCPH3
Alias symbols
C48, FLJ10867, CEP215
%HI
55.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.69(Read more about gnomAD LOEUF score)
Cytoband
9q33.2
Genomic Coordinates
GRCh37/hg19: chr9:123151153-123342445 NCBI Ensembl UCSC
GRCh38/hg38: chr9:120388875-120580167 NCBI Ensembl UCSC
MANE Select Transcript
NM_018249.6 ENST00000349780.9 (Read more about MANE Select)
Function
Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regu... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34850
ClinGen Curation ID:
CCID:006825
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • microcephaly 3, primary, autosomal recessive Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)